T4852A

# **General Information**

| **Position** | **4852** | **Variant** | **m.4852T\>A** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **L128Q** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.4852T\>A** variant in MT\-ND2 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included lHON with diffuse disc pallor, lHON with temporal disc pallor, central scotoma, and central scotoma OU.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4852 | m.4852T\>A | T4852A\-F1 | India | LHON | ND | ND | 2010 | [20454697](https://pubmed.ncbi.nlm.nih.gov/20454697/) |  |
| 2 | 4852 | m.4852T\>A | T4852A\-F2 | India | LHON | ND | ND | 2010 | [20454697](https://pubmed.ncbi.nlm.nih.gov/20454697/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4852 | m.4852T\>A | T4852A\-F1 | T4852A\-F1\-P1 | Uninf | M | Y | Y | A | 26y | Homo | / | / | / | LHON with diffuse disc pallor, central scotoma OU |  |
| 2 | 4852 | m.4852T\>A | T4852A\-F2 | T4852A\-F2\-P1 | Uninf | M | Y | Y | A | 28y | Homo | / | / | / | LHON with temporal disc pallor, central scotoma |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).